Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/613752
cui	C3151058
Gene Locus	20cen-q13.1
Gene Symbol	SAHH AHCY
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613752
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C564683	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/724040000	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/724040000	SNOMEDCT	CUI
http://purl.obolibrary.org/obo/OMIM_613752	CCO	LOOM
http://identifiers.org/omim/613752	REXO	LOOM
http://identifiers.org/omim/613752	GEXO	LOOM
http://identifiers.org/omim/613752	RETO	LOOM